Heterozygous familial hypercholesterolemia (heFH) is a hereditary lipid metabolism disorder that predisposes affected individuals to cardiovascular (CV) disease. Patients with heFH typically have very high low-density lipoprotein cholesterol (LDL-C) levels—often >190 mg/dL at the time of diagnosis—that are associated with high risk for premature CV disease. Findings from observational studies have shown that the risk of coronary heart disease (CHD) is reduced in heFH patients receiving statin therapy; however, even with treatment, the risk of CHD is still greater in heFH patients than in the general population. Despite the availability of lipid-lowering therapy (LLT), approximately 80% of patients with heFH do not reach the recommended levels of LDL-C. Given the increased CV risk in the heFH population, there is a need to provide patients with more intensive cholesterol-lowering therapy.
Current LDL-C lowering medications include statins, cholesterol absorption inhibitors (e.g., ezetimibe [EZE]), fibrates, niacin, and bile acid sequestrants. Statins are the most commonly prescribed, as they have shown a greater ability to lower LDL-C and reduce CHD events. However, many patients at risk of cardiovascular disease (CVD) have poorly controlled low-density lipoprotein cholesterol (LDL-C) despite statin therapy.